邯郸地区新生儿GJB2和GJB3基因大规模突变筛查

发布时间：2019-01-28 10:46

【摘要】：目的:探讨在新生儿听力筛查的同时,进行耳聋易感基因GJB2和GJB3基因筛查的必要性和可行性,以早期发现耳聋高危人群,针对筛查到的病例进行有效的咨询和早期预警。方法:以1 000名新生儿作为研究对象,进行常规的听力筛查,同时采集其脐带血。应用MassARRAY分子量阵列分析系统对GJB2和GJB3基因突变位点进行筛查;用Sanger测序法验证突变阳性样本。结果:1 000例新生儿中,初次听力筛查有141例(14.1%)未通过,经过复筛共有11例(1.1%)未通过新生儿听力筛查,其中2例为携带GJB2基因c.427CT纯和突变的新生儿。携带GJB2基因c.235delC杂合突变的10例(1%),均通过听力筛查。携带GJB3基因c.538CT杂合突变1例(0.1%),未通过听力筛查。共有13名新生儿携带耳聋基因突变。结论:GJB2基因突变在本地区新生儿中携带率较高为1.2%。GJB2基因突变为邯郸地区最主要的致病突变形式,在新生儿中进行GJB2基因筛查,可在早期发现GJB2基因突变携带者,有效避免高危人群出现耳聋,提高人口素质。
[Abstract]:Objective: to explore the necessity and feasibility of GJB2 and GJB3 gene screening for hearing loss susceptibility genes in newborns, so as to find out the high risk population of deafness early, and to carry out effective consultation and early warning for the selected cases. Methods: 1 000 newborns were selected for hearing screening and umbilical cord blood was collected. The mutation sites of GJB2 and GJB3 genes were screened by MassARRAY molecular weight array analysis system, and the mutation positive samples were confirmed by Sanger sequencing. Results: of the 1 000 neonates, 141 (14. 1%) had not passed the first hearing screening, 11 (1. 1%) had not passed the screening, 2 of them were pure and mutated with the GJB2 gene c.427CT. Ten cases (1%) with c.235delC heterozygosity of GJB2 gene passed hearing screening. One case (0.1%) carrying c.538CT heterozygosity of GJB3 gene failed to pass hearing screening. A total of 13 newborns carried a deafness gene mutation. Conclusion: the high rate of GJB2 gene mutation in the newborns is that the 1.2%.GJB2 gene mutation is the most important form of pathogenic mutation in Handan area. Screening the GJB2 gene in the newborn can find the carriers of GJB2 gene mutation in the early stage. Avoid deafness in high-risk population and improve population quality.
【作者单位】：河北省邯郸市中心医院检验科;邯郸市中心医院产科;
【基金】：重大出生缺陷和遗传病的防治研究〔11276102D〕
【分类号】：R764

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